Muscular dystrophy

Symptoms of muscular dystrophy

The main symptom of muscular dystrophy is muscle weakness that gets worse as you get older.

The symptoms you have and the age when they begin can vary. Some types of muscular dystrophy start in early childhood, while others do not start until later in life.

Signs can include:

• difficulty walking
• difficulty lifting things
• falling easily
• muscle pain
• tightness in the joints

In young children, symptoms can include floppiness and taking longer than expected to crawl or walk.

Types of muscular dystrophy

There are many different types of muscular dystrophy.

The type of muscular dystrophy you have affects:

• your symptoms and how severe they are – some types are quite mild, while others will have a significant impact on your life
• when your symptoms begin – some types begin in early childhood, others begin later in life
• how quickly your symptoms get worse (progress)

The most common type is Duchenne muscular dystrophy, which begins in early childhood, usually only affects boys, and progresses quickly.

Causes of muscular dystrophy

Muscular dystrophy is a genetic condition, which means it's caused by an altered gene. Different genes cause different types of muscular dystrophy.

The altered gene can be passed on from your parents (inherited), or you can be born with it even if your parents do not have it.

If someone in your family has been diagnosed with muscular dystrophy, genetic testing can help you find out if you have the gene that causes it.

How muscular dystrophy is diagnosed

If a GP thinks you or your child may have muscular dystrophy, they'll usually refer you to a specialist for tests.

More than one test may be needed to confirm a diagnosis or to identify the type.

Tests you might have include:

• a blood test
• a genetic test for a gene that causes muscular dystrophy
• an electromyogram (EMG), where a small needle is inserted into a muscle to check the electrical activity in the muscle
• a muscle biopsy, where a small piece of muscle tissue is removed and tested
• an MRI scan of the muscles

Diagnosing muscular dystrophy in pregnancy

If there's a chance you could have a child with muscular dystrophy, a GP may refer you to a genetic counsellor to discuss the risks and options.

Tests are available before, during and after pregnancy for you and your baby.

These tests may include:

• a genetic blood test to see if you carry the altered gene
• a blood test during early pregnancy to check the sex of the baby – boys are more likely to be affected by some types of muscular dystrophy
• chorionic villus sampling (CVS) or amniocentesis tests during pregnancy to check if your baby has muscular dystrophy
• a blood test after your baby is born

How muscular dystrophy affects your life

Muscular dystrophy is different for everyone.

All types of muscular dystrophy can affect your ability to move around. How severe your symptoms are and how quickly they get worse depends on the type you have.

Many people with muscular dystrophy will need to use mobility equipment, such as a wheelchair, as the muscle weakness gets worse.

Some types of muscular dystrophy can also affect other parts of the body, such as the heart, lungs or spine.

Muscular dystrophy can affect how long you live. This depends on your symptoms and how they affect you. Your care team can give you more information about this.

Treatment for muscular dystrophy

There is currently no cure for muscular dystrophy, but treatment can help manage your symptoms.

You'll normally be supported by a team of different specialists.

Your treatment will depend on the type of muscular dystrophy you have and your symptoms.

Medical treatments for muscular dystrophy

Treatments you may have include:

• physiotherapy to help with movement and relieve pain
• medicines to slow the progression of the condition, such as steroids and other medicines for Duchenne muscular dystrophy
• treatment for heart problems, such as a pacemaker or medicines like ACE inhibitors and beta blockers
• surgery for problems like scoliosis and tight joints
• a machine to help with your breathing, if the condition affects your lungs

Support for living with muscular dystrophy

You'll also be offered support for living with muscular dystrophy. Every person's needs will be different depending on their symptoms.

Support you might need may include:

• occupational therapy to help you do day-to-day activities
• mobility equipment, including walking sticks, frames and wheelchairs
• home adaptations, such as stair lifts or railings
• support around the home, at work and school

Help and support for muscular dystrophy

If you or your child have muscular dystrophy, your care team will be there to support you throughout your treatment.

You may also find it helpful to get support from other people with muscular dystrophy, or parents of children with muscular dystrophy.

There are also national charities that can offer help and support.

Muscular Dystrophy UK

Muscular Dystrophy UK is a charity that provides support and information to people with muscular dystrophy and other muscle wasting conditions, and their family and carers.

• Website: www.musculardystrophyuk.org
• Muscular Dystrophy UK: helpline
• Muscular Dystrophy UK: support groups
• Muscular Dystrophy UK: peer support

Other organisations

Other organisations offering support and information include:

• Pathfinders Neuromuscular Alliance for people with muscle weakening conditions
• Duchenne UK for people with Duchenne muscular dystrophy and their families

Recording information about you and your condition

If you have muscular dystrophy, your care team will pass information on to the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS).

This helps scientists find better ways to treat and prevent this condition. You can opt out of the register at any time.